A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728915



Internal ID21755236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41204794..41204794hg38UCSC Ensembl
chr19:41710699..41710699hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381128
hg191128
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239998, nssv17238026
Samples
Known GenesCYP2S1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5728915
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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